| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48446708A= | CA2175494849 | FBN1 | c.5786T= (p.Ile1929=) n.4460T= c.785T= (p.Ile262=) c.*1549T= (n.*1549T=) c.1093T= | |
| 15 | g.48446708A>C | CA392341004 | FBN1 | c.5786T>G (p.Ile1929Arg) n.4460T>G c.785T>G (p.Ile262Arg) c.*1549T>G (n.*1549T>G) c.1093T>G | |
| 15 | g.48446708A>G | CA055522 | FBN1 | c.5786T>C (p.Ile1929Thr) n.4460T>C c.785T>C (p.Ile262Thr) c.*1549T>C (n.*1549T>C) c.1093T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446708A>T | CA392341007 | FBN1 | c.5786T>A (p.Ile1929Lys) n.4460T>A c.785T>A (p.Ile262Lys) c.*1549T>A (n.*1549T>A) c.1093T>A | |
| 15 | g.48446709T>A | CA392341009 | FBN1 | c.5785A>T (p.Ile1929Leu) n.4459A>T c.784A>T (p.Ile262Leu) c.*1548A>T (n.*1548A>T) c.1092A>T | |
| 15 | g.48446709T>C | CA055517 | FBN1 | c.5785A>G (p.Ile1929Val) n.4459A>G c.784A>G (p.Ile262Val) c.*1548A>G (n.*1548A>G) c.1092A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446709T>G | CA392341012 | FBN1 | c.5785A>C (p.Ile1929Leu) n.4459A>C c.784A>C (p.Ile262Leu) c.*1548A>C (n.*1548A>C) c.1092A>C | |
| 15 | g.48446709T= | CA2175494853 | FBN1 | c.5785A= (p.Ile1929=) n.4459A= c.784A= (p.Ile262=) c.*1548A= (n.*1548A=) c.1092A= | |
| 15 | g.48446710A>C | CA392341013 | FBN1 | c.5784T>G (p.Cys1928Trp) n.4458T>G c.783T>G (p.Cys261Trp) c.*1547T>G (n.*1547T>G) c.1091T>G | |
| 15 | g.48446710A>G | CA490022959 | FBN1 | c.5784T>C (p.Cys1928=) n.4458T>C c.783T>C (p.Cys261=) c.*1547T>C (n.*1547T>C) c.1091T>C | COSMIC |
| 15 | g.48446710A>T | CA392341014 | FBN1 | c.5784T>A (p.Cys1928Ter) n.4458T>A c.783T>A (p.Cys261Ter) c.*1547T>A (n.*1547T>A) c.1091T>A | |
| 15 | g.48446710dup | CA2628347782 | FBN1 | c.5784dup (p.Ile1929TyrfsTer4) n.4458dup c.783dup (p.Ile262TyrfsTer4) c.*1547dup (n.*1547dup) c.1091dup | gnomAD v4 |
| 15 | g.48446711C>A | CA016047 | FBN1 | c.5783G>T (p.Cys1928Phe) n.4457G>T c.782G>T (p.Cys261Phe) c.*1546G>T (n.*1546G>T) c.1090G>T | ClinVar dbSNP |
| 15 | g.48446711C= | CA2175494859 | FBN1 | c.5783G= (p.Cys1928=) n.4457G= c.782G= (p.Cys261=) c.*1546G= (n.*1546G=) c.1090G= | |
| 15 | g.48446711C>G | CA392341015 | FBN1 | c.5783G>C (p.Cys1928Ser) n.4457G>C c.782G>C (p.Cys261Ser) c.*1546G>C (n.*1546G>C) c.1090G>C | |
| 15 | g.48446711C>T | CA392341016 | FBN1 | c.5783G>A (p.Cys1928Tyr) n.4457G>A c.782G>A (p.Cys261Tyr) c.*1546G>A (n.*1546G>A) c.1090G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48446712A= | CA2175494867 | FBN1 | c.5782T= (p.Cys1928=) n.4456T= c.781T= (p.Cys261=) c.*1545T= (n.*1545T=) c.1089T= | |
| 15 | g.48446712A>C | CA392341017 | FBN1 | c.5782T>G (p.Cys1928Gly) n.4456T>G c.781T>G (p.Cys261Gly) c.*1545T>G (n.*1545T>G) c.1089T>G | |
| 15 | g.48446712A>G | CA16602236 | FBN1 | c.5782T>C (p.Cys1928Arg) n.4456T>C c.781T>C (p.Cys261Arg) c.*1545T>C (n.*1545T>C) c.1089T>C | ClinVar dbSNP |
| 15 | g.48446712A>T | CA392341019 | FBN1 | c.5782T>A (p.Cys1928Ser) n.4456T>A c.781T>A (p.Cys261Ser) c.*1545T>A (n.*1545T>A) c.1089T>A | |
| 15 | g.48446713G>A | CA490022961 | FBN1 | c.5781C>T (p.Asp1927=) n.4455C>T c.780C>T (p.Asp260=) c.*1544C>T (n.*1544C>T) c.1088C>T | |
| 15 | g.48446713G>C | CA392341021 | FBN1 | c.5781C>G (p.Asp1927Glu) n.4455C>G c.780C>G (p.Asp260Glu) c.*1544C>G (n.*1544C>G) c.1088C>G | |
| 15 | g.48446713G>T | CA392341022 | FBN1 | c.5781C>A (p.Asp1927Glu) n.4455C>A c.780C>A (p.Asp260Glu) c.*1544C>A (n.*1544C>A) c.1088C>A | gnomAD v4 |
| 15 | g.48446714T>A | CA392341025 | FBN1 | c.5780A>T (p.Asp1927Val) n.4454A>T c.779A>T (p.Asp260Val) c.*1543A>T (n.*1543A>T) c.1087A>T | |
| 15 | g.48446714T>C | CA392341027 | FBN1 | c.5780A>G (p.Asp1927Gly) n.4454A>G c.779A>G (p.Asp260Gly) c.*1543A>G (n.*1543A>G) c.1087A>G | |
| 15 | g.48446714T>G | CA392341029 | FBN1 | c.5780A>C (p.Asp1927Ala) n.4454A>C c.779A>C (p.Asp260Ala) c.*1543A>C (n.*1543A>C) c.1087A>C | |
| 15 | g.48446715C>A | CA392341031 | FBN1 | c.5779G>T (p.Asp1927Tyr) n.4453G>T c.778G>T (p.Asp260Tyr) c.*1542G>T (n.*1542G>T) c.1086G>T | gnomAD v4 |
| 15 | g.48446715C>G | CA392341033 | FBN1 | c.5779G>C (p.Asp1927His) n.4453G>C c.778G>C (p.Asp260His) c.*1542G>C (n.*1542G>C) c.1086G>C | |
| 15 | g.48446715C>T | CA392341035 | FBN1 | c.5779G>A (p.Asp1927Asn) n.4453G>A c.778G>A (p.Asp260Asn) c.*1542G>A (n.*1542G>A) c.1086G>A | |
| 15 | g.48446715_48446718delinsCATT | CA2175494876 | FBN1 | c.5776_5779delinsAATG (p.Asn1926=) n.4450_4453delinsAATG c.775_778delinsAATG (p.Asn259=) c.*1539_*1542delinsAATG (n.*1539_*1542delinsAATG) c.1083_1086delinsAATG | |
| 15 | g.48446716del | CA2695220253 | FBN1 | c.5778del (p.Asn1926LysfsTer4) n.4452del c.777del (p.Asn259LysfsTer4) c.*1541del (n.*1541del) c.1085del | |
| 15 | g.48446716A= | CA2175494884 | FBN1 | c.5778T= (p.Asn1926=) n.4452T= c.777T= (p.Asn259=) c.*1541T= (n.*1541T=) c.1085T= | |
| 15 | g.48446716A>C | CA392341037 | FBN1 | c.5778T>G (p.Asn1926Lys) n.4452T>G c.777T>G (p.Asn259Lys) c.*1541T>G (n.*1541T>G) c.1085T>G | ClinVar dbSNP |
| 15 | g.48446716A>G | CA490022962 | FBN1 | c.5778T>C (p.Asn1926=) n.4452T>C c.777T>C (p.Asn259=) c.*1541T>C (n.*1541T>C) c.1085T>C | |
| 15 | g.48446716A>T | CA392341040 | FBN1 | c.5778T>A (p.Asn1926Lys) n.4452T>A c.777T>A (p.Asn259Lys) c.*1541T>A (n.*1541T>A) c.1085T>A | |
| 15 | g.48446716_48446718del | CA10587812 | FBN1 | c.5776_5778del (p.Asn1926del) n.4450_4452del c.775_777del (p.Asn259del) c.*1539_*1541del (n.*1539_*1541del) c.1083_1085del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48446717T>A | CA392341042 | FBN1 | c.5777A>T (p.Asn1926Ile) n.4451A>T c.776A>T (p.Asn259Ile) c.*1540A>T (n.*1540A>T) c.1084A>T | |
| 15 | g.48446717T>C | CA392341044 | FBN1 | c.5777A>G (p.Asn1926Ser) n.4451A>G c.776A>G (p.Asn259Ser) c.*1540A>G (n.*1540A>G) c.1084A>G | dbSNP gnomAD v4 |
| 15 | g.48446717T>G | CA392341046 | FBN1 | c.5777A>C (p.Asn1926Thr) n.4451A>C c.776A>C (p.Asn259Thr) c.*1540A>C (n.*1540A>C) c.1084A>C | |
| 15 | g.48446717T= | CA2175494895 | FBN1 | c.5777A= (p.Asn1926=) n.4451A= c.776A= (p.Asn259=) c.*1540A= (n.*1540A=) c.1084A= | |
| 15 | g.48446718T>A | CA392341048 | FBN1 | c.5776A>T (p.Asn1926Tyr) n.4450A>T c.775A>T (p.Asn259Tyr) c.*1539A>T (n.*1539A>T) c.1083A>T | |
| 15 | g.48446718T>C | CA16614411 | FBN1 | c.5776A>G (p.Asn1926Asp) n.4450A>G c.775A>G (p.Asn259Asp) c.*1539A>G (n.*1539A>G) c.1083A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48446718T>G | CA392341050 | FBN1 | c.5776A>C (p.Asn1926His) n.4450A>C c.775A>C (p.Asn259His) c.*1539A>C (n.*1539A>C) c.1083A>C | |
| 15 | g.48446718T= | CA2175494907 | FBN1 | c.5776A= (p.Asn1926=) n.4450A= c.775A= (p.Asn259=) c.*1539A= (n.*1539A=) c.1083A= | |
| 15 | g.48446719G>A | CA490022964 | FBN1 | c.5775C>T (p.Asn1925=) n.4449C>T c.774C>T (p.Asn258=) c.*1538C>T (n.*1538C>T) c.1082C>T | gnomAD v4 |
| 15 | g.48446719G>C | CA392341051 | FBN1 | c.5775C>G (p.Asn1925Lys) n.4449C>G c.774C>G (p.Asn258Lys) c.*1538C>G (n.*1538C>G) c.1082C>G | |
| 15 | g.48446719G>T | CA392341053 | FBN1 | c.5775C>A (p.Asn1925Lys) n.4449C>A c.774C>A (p.Asn258Lys) c.*1538C>A (n.*1538C>A) c.1082C>A | |
| 15 | g.48446720T>A | CA392341055 | FBN1 | c.5774A>T (p.Asn1925Ile) n.4448A>T c.773A>T (p.Asn258Ile) c.*1537A>T (n.*1537A>T) c.1081A>T | |
| 15 | g.48446720T>C | CA055509 | FBN1 | c.5774A>G (p.Asn1925Ser) n.4448A>G c.773A>G (p.Asn258Ser) c.*1537A>G (n.*1537A>G) c.1081A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48446720T>G | CA392341059 | FBN1 | c.5774A>C (p.Asn1925Thr) n.4448A>C c.773A>C (p.Asn258Thr) c.*1537A>C (n.*1537A>C) c.1081A>C |